The Agamma-195 (C->G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
Braz. j. med. biol. res
;
34(4): 489-92, Apr. 2001. tab
Artigo
em Inglês
| LILACS
| ID: lil-282614
ABSTRACT
Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of gamma-globin genes persists into adult life. Several point mutations have been associated with the increased gamma-globin gene promoter activity. We evaluated the -195 (C->G) mutation by a functional in vitro assay based on the luciferase reporter gene system. The results indicated that the increased promoter activity observed in vivo could not be reproduced in vitro under the conditions employed, suggesting that other factors may be involved in the overexpression of the gamma-globin gene containing the -195 (C->G) mutation. Furthermore, this is the first time that the -195 (C->G) mutation of the Agamma-globin gene has been evaluated by in vitro gene expression
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Técnicas In Vitro
/
Hemoglobina Fetal
/
Globinas
/
Genes Reporter
/
Hemoglobinopatias
/
Mutação
Tipo de estudo:
Fatores de risco
Limite:
Adulto
/
Humanos
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
2001
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Estadual de Campinas/BR
/
Universidade de São Paulo/BR
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